Canonical Allele Identifier: CA359188498

Gene: DNAH5

Linked Data

• MyVariant Identifiers: chr5:g.13692103T>C (hg19) ; chr5:g.13691994T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13691994T>C , CM000667.2:g.13691994T>C	GRCh38
NC_000005.9:g.13692103T>C , CM000667.1:g.13692103T>C	GRCh37
NC_000005.8:g.13745103T>C	NCBI36
NG_013081.1:g.257487A>G
NG_013081.2:g.257487A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000683611.1:n.1198A>G
ENST00000265104.5:c.13865A>G MANE Select	ENSP00000265104.4:p.Asp4622Gly
ENST00000681290.1:c.13820A>G	ENSP00000505288.1:p.Asp4607Gly
ENST00000265104.4:c.13865A>G	ENSP00000265104.4:p.Asp4622Gly
NM_001369.2:c.13865A>G	NP_001360.1:p.Asp4622Gly
XM_005248262.2:c.13820A>G	XP_005248319.1:p.Asp4607Gly
XM_005248262.3:c.13973A>G	XP_005248319.2:p.Asp4658Gly
XM_017009177.1:c.13553A>G	XP_016864666.1:p.Asp4518Gly
XM_017009178.1:c.12878A>G	XP_016864667.1:p.Asp4293Gly
XM_017009179.2:c.12878A>G	XP_016864668.1:p.Asp4293Gly
XM_017009185.1:c.9062A>G	XP_016864674.1:p.Asp3021Gly
XM_017009186.1:c.8615A>G	XP_016864675.1:p.Asp2872Gly
XM_017009188.1:c.7952A>G	XP_016864677.1:p.Asp2651Gly
XM_024454388.1:c.12878A>G	XP_024310156.1:p.Asp4293Gly
XM_024454389.1:c.12467A>G	XP_024310157.1:p.Asp4156Gly
NM_001369.3:c.13865A>G MANE Select	NP_001360.1:p.Asp4622Gly